ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1047T>C (p.Asp349=)

gnomAD frequency: 0.88273  dbSNP: rs3739494
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153753 SCV000203324 benign not specified 2013-04-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000153753 SCV000269707 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.1113T) is the minor allele. This a llele (T) has been identified in 5% (411/8600) of European American chromosomes and 26% (1143/4406) of African American chromosomes by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; dbSNP rs3739494) and thus meets cr iteria to be classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510057 SCV001716993 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789215 SCV002031767 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789213 SCV002031768 benign Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789214 SCV002031769 benign Autosomal recessive limb-girdle muscular dystrophy type 2K 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718071 SCV005317389 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000153753 SCV001741129 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000153753 SCV001921718 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000153753 SCV001974152 benign not specified no assertion criteria provided clinical testing

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